Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal nervous system physiology (HP:0012638)

Grandparent Node:
Abnormality of the nose (HP:0000366)

Parent Node:
Abnormality of the sense of smell (HP:0004408)

..Starting node
..Anosmia (HP:0000458)

Term ID:

458

Name:

Anosmia

Synonym:

Loss of smell; Lost smell

Definition:

An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.

Comments:

Reference:

HP:0000458

Genes and Diseases:

Child Nodes:

........

Total anosmia (HP:0010632)

........

Partial anosmia (HP:0010633)

........

Specific anosmia (HP:0012247)

Sister Nodes:

Hyposmia (HP:0004409)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000458	HP:0000458	Anosmia	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	.
HP:0000458	HP:0000458	Anosmia	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0000458	HP:0000458	Anosmia	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0000458	HP:0000458	Anosmia	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	65
HP:0000458	HP:0000458	Anosmia	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0000458	HP:0000458	Anosmia	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0000458	HP:0000458	Anosmia	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0000458	HP:0000458	Anosmia	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0000458	HP:0000458	Anosmia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000458	HP:0000458	Anosmia	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0000458	HP:0000458	Anosmia	0	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia		515
HP:0000458	HP:0000458	Anosmia	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	515
HP:0000458	HP:0000458	Anosmia	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	36
HP:0000458	HP:0000458	Anosmia	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0000458	HP:0000458	Anosmia	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0000458	HP:0000458	Anosmia	0	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia	.	2
HP:0000458	HP:0000458	Anosmia	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	2
HP:0000458	HP:0000458	Anosmia	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0000458	HP:0000458	Anosmia	0	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia		3
HP:0000458	HP:0000458	Anosmia	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	3
HP:0000458	HP:0000458	Anosmia	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	HP:0040283 - Occasional	17
HP:0000458	HP:0000458	Anosmia	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	17
HP:0000458	HP:0000458	Anosmia	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.	172
HP:0000458	HP:0000458	Anosmia	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	172
HP:0000458	HP:0000458	Anosmia	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0000458	HP:0000458	Anosmia	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0000458	HP:0000458	Anosmia	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0000458	HP:0000458	Anosmia	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0000458	HP:0000458	Anosmia	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	HP:0040282 - Frequent	15
HP:0000458	HP:0000458	Anosmia	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	21
HP:0000458	HP:0000458	Anosmia	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0000458	HP:0000458	Anosmia	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0000458	HP:0000458	Anosmia	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	8
HP:0000458	HP:0000458	Anosmia	0	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia	HP:0040283 - Occasional	9
HP:0000458	HP:0000458	Anosmia	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0000458	HP:0000458	Anosmia	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	HP:0040283 - Occasional	14
HP:0000458	HP:0000458	Anosmia	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0000458	HP:0000458	Anosmia	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0000458	HP:0000458	Anosmia	0	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0000458	HP:0000458	Anosmia	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0000458	HP:0000458	Anosmia	0	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	HP:0040283 - Occasional	6
HP:0000458	HP:0000458	Anosmia	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0000458	HP:0000458	Anosmia	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.	72
HP:0000458	HP:0000458	Anosmia	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040281 - Very frequent	72
HP:0000458	HP:0000458	Anosmia	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.	72
HP:0000458	HP:0000458	Anosmia	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.	45
HP:0000458	HP:0000458	Anosmia	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040281 - Very frequent	45
HP:0000458	HP:0000458	Anosmia	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	HP:0040283 - Occasional	9
HP:0000458	HP:0000458	Anosmia	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0000458	HP:0000458	Anosmia	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0000458	HP:0000458	Anosmia	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0000458	HP:0000458	Anosmia	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0000458	HP:0000458	Anosmia	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0000458	HP:0000458	Anosmia	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0000458	HP:0000458	Anosmia	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	14
HP:0000458	HP:0000458	Anosmia	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0000458	HP:0000458	Anosmia	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor	HP:0040283 - Occasional	67
HP:0000458	HP:0000458	Anosmia	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0000458	HP:0000458	Anosmia	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000458	HP:0000458	Anosmia	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0000458	HP:0000458	Anosmia	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	61
HP:0000458	HP:0000458	Anosmia	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0000458	HP:0000458	Anosmia	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	HP:0040283 - Occasional	61
HP:0000458	HP:0000458	Anosmia	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	HP:0040283 - Occasional	61
HP:0000458	HP:0000458	Anosmia	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0000458	HP:0000458	Anosmia	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0000458	HP:0000458	Anosmia	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	5
HP:0000458	HP:0000458	Anosmia	0	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia	HP:0040283 - Occasional	6
HP:0000458	HP:0000458	Anosmia	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0000458	HP:0000458	Anosmia	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0000458	HP:0000458	Anosmia	0	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia	HP:0040283 - Occasional	10
HP:0000458	HP:0000458	Anosmia	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	10
HP:0000458	HP:0010633	Partial anosmia	1	CL E G H
HP:0000458	HP:0010632	Total anosmia	1	CL E G H
HP:0000458	HP:0012247	Specific anosmia	1	CL E G H

Genes (47) :ADCY3 ANK1 ANOS1 ARNT2 ARSL ATP13A2 CCDC141 CHD7 DCC DNAI1 DUSP6 FEZF1 FGF10 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FLRT3 GNRH1 HESX1 HS6ST1 IL17RD KISS1R LZTFL1 MFN2 NDNF NSMF OTX2 PEX7 PHYH PROK2 PROKR2 SCN9A SEMA3A SEMA3E SHH SLC39A14 SMCHD1 SOX10 SOX2 SOX3 SPRY4 TAC3 TACR3 TCF12 WDR11

Diseases (41) :OMIM:617885 ORPHA:251066 OMIM:308700 ORPHA:478 ORPHA:3157 OMIM:302950 OMIM:606693 OMIM:214800 ORPHA:138 OMIM:612370 OMIM:244400 OMIM:616030 ORPHA:2363 OMIM:615270 OMIM:612702 OMIM:147950 OMIM:614841 OMIM:614880 OMIM:615267 OMIM:614837 OMIM:615994 OMIM:601152 OMIM:618841 OMIM:614838 OMIM:614879 ORPHA:773 OMIM:266500 OMIM:610628 OMIM:244200 OMIM:243000 OMIM:614897 OMIM:147250 OMIM:144755 OMIM:603457 ORPHA:2250 OMIM:609136 OMIM:611584 OMIM:613266 OMIM:614839 OMIM:619718 OMIM:614858

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen